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GTR Home > Conditions/Phenotypes > Iron overload, susceptibility to

Iron overload, susceptibility to

Summary

Iron overload (IO) is characterized by the onset of increased systemic iron levels apparent in mid-adulthood. Laboratory studies show increased serum ferritin, normal or high transferrin saturation, increased liver iron content, and inappropriately low or normal levels of hepcidin. Presence of a BMP6 mutation confers susceptibility to the disorder, but additional factors, including alcohol consumption, increased body weight, and possibly HFE gene (613609) variants, may contribute to the severity of the manifestations (Daher et al., 2016; Piubelli et al., 2017). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IO, VGR, VGR1, BMP6
    Summary: bone morphogenetic protein 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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